Incidental Mutation 'IGL02534:Smc5'
ID |
297444 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Smc5
|
Ensembl Gene |
ENSMUSG00000024943 |
Gene Name |
structural maintenance of chromosomes 5 |
Synonyms |
Smc5l1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02534
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
23183815-23251261 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 23205536 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153420
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087556]
[ENSMUST00000223934]
[ENSMUST00000226111]
|
AlphaFold |
Q8CG46 |
Predicted Effect |
probably null
Transcript: ENSMUST00000087556
|
SMART Domains |
Protein: ENSMUSP00000084837 Gene: ENSMUSG00000024943
Domain | Start | End | E-Value | Type |
Pfam:SMC_N
|
52 |
1057 |
9.2e-19 |
PFAM |
Pfam:AAA_23
|
55 |
456 |
1.2e-9 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000223934
|
Predicted Effect |
probably null
Transcript: ENSMUST00000226111
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous knockout in embryonic stem cells causes abnormal mitosis, increased apoptosis and a shift from pluripotency to differentiation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aggf1 |
C |
T |
13: 95,506,030 (GRCm39) |
E186K |
possibly damaging |
Het |
Ajm1 |
G |
T |
2: 25,467,043 (GRCm39) |
S956* |
probably null |
Het |
Anks1b |
A |
G |
10: 90,730,979 (GRCm39) |
I932V |
probably benign |
Het |
Atg2b |
A |
G |
12: 105,609,526 (GRCm39) |
Y1361H |
probably damaging |
Het |
Bcl9 |
G |
T |
3: 97,122,545 (GRCm39) |
L85M |
probably damaging |
Het |
Bcl9l |
T |
G |
9: 44,417,036 (GRCm39) |
S291R |
probably benign |
Het |
Cpa2 |
T |
A |
6: 30,550,767 (GRCm39) |
D201E |
probably benign |
Het |
Efna5 |
A |
T |
17: 62,920,384 (GRCm39) |
C164* |
probably null |
Het |
Fhip2b |
A |
T |
14: 70,823,128 (GRCm39) |
H642Q |
probably damaging |
Het |
Fhip2b |
T |
A |
14: 70,823,630 (GRCm39) |
H580L |
probably benign |
Het |
Gm6316 |
A |
G |
12: 69,967,763 (GRCm39) |
|
probably benign |
Het |
Gucy2g |
A |
G |
19: 55,229,500 (GRCm39) |
S57P |
probably damaging |
Het |
Inf2 |
C |
A |
12: 112,576,930 (GRCm39) |
A968E |
unknown |
Het |
Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
Mcm5 |
T |
A |
8: 75,840,861 (GRCm39) |
V222E |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,398,456 (GRCm39) |
Y287C |
unknown |
Het |
Or12e9 |
T |
G |
2: 87,202,598 (GRCm39) |
S241A |
probably benign |
Het |
Or13a24 |
A |
T |
7: 140,154,554 (GRCm39) |
M163L |
probably benign |
Het |
Or14c39 |
G |
A |
7: 86,343,939 (GRCm39) |
V92M |
probably benign |
Het |
Or8u10 |
A |
G |
2: 85,915,713 (GRCm39) |
M136T |
probably damaging |
Het |
Pabpc1l |
A |
G |
2: 163,869,410 (GRCm39) |
D70G |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
Ppp1r17 |
C |
A |
6: 56,003,445 (GRCm39) |
S86* |
probably null |
Het |
Rasd1 |
A |
G |
11: 59,855,615 (GRCm39) |
M6T |
possibly damaging |
Het |
Rsph14 |
C |
A |
10: 74,793,466 (GRCm39) |
V345F |
probably damaging |
Het |
Slc11a2 |
T |
A |
15: 100,299,207 (GRCm39) |
Q121L |
probably benign |
Het |
Tanc2 |
T |
C |
11: 105,725,994 (GRCm39) |
L386P |
probably damaging |
Het |
Tmem9b |
A |
T |
7: 109,336,164 (GRCm39) |
L160Q |
probably damaging |
Het |
Trim32 |
A |
G |
4: 65,532,906 (GRCm39) |
T488A |
possibly damaging |
Het |
Tubb1 |
A |
G |
2: 174,297,462 (GRCm39) |
I24V |
probably benign |
Het |
Upf1 |
A |
T |
8: 70,788,302 (GRCm39) |
|
probably null |
Het |
Zfp263 |
T |
A |
16: 3,564,279 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Smc5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00569:Smc5
|
APN |
19 |
23,213,329 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01070:Smc5
|
APN |
19 |
23,208,965 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01315:Smc5
|
APN |
19 |
23,208,968 (GRCm39) |
missense |
probably benign |
|
IGL01879:Smc5
|
APN |
19 |
23,205,548 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01902:Smc5
|
APN |
19 |
23,237,132 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02016:Smc5
|
APN |
19 |
23,251,076 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02186:Smc5
|
APN |
19 |
23,209,223 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02383:Smc5
|
APN |
19 |
23,191,996 (GRCm39) |
splice site |
probably benign |
|
IGL02447:Smc5
|
APN |
19 |
23,234,856 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02834:Smc5
|
APN |
19 |
23,234,968 (GRCm39) |
missense |
probably benign |
0.30 |
IGL03290:Smc5
|
APN |
19 |
23,251,022 (GRCm39) |
missense |
probably benign |
0.19 |
R0722:Smc5
|
UTSW |
19 |
23,186,291 (GRCm39) |
missense |
probably damaging |
0.99 |
R0893:Smc5
|
UTSW |
19 |
23,241,017 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0970:Smc5
|
UTSW |
19 |
23,216,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R1281:Smc5
|
UTSW |
19 |
23,213,247 (GRCm39) |
missense |
probably benign |
|
R1368:Smc5
|
UTSW |
19 |
23,187,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R2092:Smc5
|
UTSW |
19 |
23,216,263 (GRCm39) |
missense |
probably benign |
|
R3721:Smc5
|
UTSW |
19 |
23,187,856 (GRCm39) |
missense |
probably benign |
0.21 |
R4382:Smc5
|
UTSW |
19 |
23,246,210 (GRCm39) |
missense |
probably benign |
0.39 |
R4735:Smc5
|
UTSW |
19 |
23,220,069 (GRCm39) |
missense |
probably benign |
|
R4936:Smc5
|
UTSW |
19 |
23,211,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R5306:Smc5
|
UTSW |
19 |
23,237,009 (GRCm39) |
critical splice donor site |
probably null |
|
R5754:Smc5
|
UTSW |
19 |
23,221,467 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6175:Smc5
|
UTSW |
19 |
23,191,534 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6313:Smc5
|
UTSW |
19 |
23,186,312 (GRCm39) |
nonsense |
probably null |
|
R6527:Smc5
|
UTSW |
19 |
23,205,554 (GRCm39) |
missense |
probably benign |
0.00 |
R6611:Smc5
|
UTSW |
19 |
23,206,283 (GRCm39) |
missense |
probably benign |
0.13 |
R6750:Smc5
|
UTSW |
19 |
23,220,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R6801:Smc5
|
UTSW |
19 |
23,192,010 (GRCm39) |
missense |
probably benign |
0.34 |
R6821:Smc5
|
UTSW |
19 |
23,220,151 (GRCm39) |
missense |
probably benign |
0.20 |
R7002:Smc5
|
UTSW |
19 |
23,209,247 (GRCm39) |
missense |
probably benign |
0.00 |
R7198:Smc5
|
UTSW |
19 |
23,237,064 (GRCm39) |
nonsense |
probably null |
|
R7386:Smc5
|
UTSW |
19 |
23,192,539 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7439:Smc5
|
UTSW |
19 |
23,220,064 (GRCm39) |
missense |
probably damaging |
0.97 |
R7596:Smc5
|
UTSW |
19 |
23,191,533 (GRCm39) |
missense |
probably damaging |
0.99 |
R7666:Smc5
|
UTSW |
19 |
23,206,381 (GRCm39) |
missense |
probably benign |
0.15 |
R7760:Smc5
|
UTSW |
19 |
23,213,254 (GRCm39) |
missense |
probably benign |
0.01 |
R7990:Smc5
|
UTSW |
19 |
23,213,246 (GRCm39) |
missense |
probably benign |
0.01 |
R8255:Smc5
|
UTSW |
19 |
23,186,290 (GRCm39) |
missense |
|
|
R8359:Smc5
|
UTSW |
19 |
23,211,443 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8473:Smc5
|
UTSW |
19 |
23,221,446 (GRCm39) |
missense |
probably benign |
0.02 |
R8711:Smc5
|
UTSW |
19 |
23,243,058 (GRCm39) |
missense |
probably damaging |
0.98 |
R8815:Smc5
|
UTSW |
19 |
23,221,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R8885:Smc5
|
UTSW |
19 |
23,191,234 (GRCm39) |
missense |
probably damaging |
0.99 |
R8940:Smc5
|
UTSW |
19 |
23,237,126 (GRCm39) |
missense |
probably benign |
0.00 |
R9642:Smc5
|
UTSW |
19 |
23,238,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |